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Showing 1–19 of 19 results

Advanced filters: Author: Colleen J. Doherty Clear advanced filters

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

Amanda K. Ewart
Colleen A. Morris
Mark T. Keating
Research01 Sept 1993
Nature Genetics

Volume: 5, P: 11-16
Regulation of airway fumarate by host and pathogen promotes Staphylococcus aureus pneumonia

This study reveals how the pathogen Staphylococcus aureus adapts to the lung microenvironment, rich in host metabolites fumarate and itaconate, by using a key enzyme, FumC, to support its metabolic fitness, survival, and persistence.

Ying-Tsun Chen
Zihua Liu
Tania Wong Fok Lung
ResearchOpen Access01 Aug 2025
Nature Communications

Volume: 16, P: 1-15
Fever in Young Lambs: Carotid Denervation Alters the Febrile Response to a Small Dose of Bacterial Pyrogen

James E Fewell
Colleen S Kondo
Research01 Feb 1992
Pediatric Research

Volume: 31, P: 107-111
Comparative transcriptome analysis reveals candidate genes for cold stress response and early flowering in pineapple

Ashley G. Yow
Kanjana Laosuntisuk
Massimo Iorizzo
ResearchOpen Access02 Nov 2023
Scientific Reports

Volume: 13, P: 1-17
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft
Jennifer B. Phillips
Hugo J. Bellen
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1889-1900
A universal method for high-quality RNA extraction from plant tissues rich in starch, proteins and fiber

Amaranatha R. Vennapusa
Impa M. Somayanda
S. V. Krishna Jagadish
ResearchOpen Access09 Oct 2020
Scientific Reports

Volume: 10, P: 1-13
Genome-wide association study and gene network analyses reveal potential candidate genes for high night temperature tolerance in rice

Raju Bheemanahalli
Montana Knight
S. V. Krishna Jagadish
ResearchOpen Access24 Mar 2021
Scientific Reports

Volume: 11, P: 1-17
Improving Gene Regulatory Network Inference by Incorporating Rates of Transcriptional Changes

Jigar S. Desai
Ryan C. Sartor
Colleen J. Doherty
ResearchOpen Access08 Dec 2017
Scientific Reports

Volume: 7, P: 1-12
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Shilpa Nadimpalli Kobren
Dustin Baldridge
Isaac S. Kohane
ResearchOpen Access12 Feb 2021
Genetics in Medicine

Volume: 23, P: 1075-1085
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
ResearchOpen Access26 Nov 2020
Genetics in Medicine

Volume: 23, P: 740-750
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach
Georgi Stoyanov
Christian P. Schaaf
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1465-1473
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Research23 Jun 2021
Genetics in Medicine

Volume: 23, P: 1922-1932
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Research23 Oct 2020
Genetics in Medicine

Volume: 23, P: 259-271
Engineering osteoblastic metastases to delineate the adaptive response of androgen-deprived prostate cancer in the bone metastatic microenvironment

Nathalie Bock
Ali Shokoohmand
Dietmar W. Hutmacher
ResearchOpen Access25 Apr 2019
Bone Research

Volume: 7, P: 1-14
At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

Munib Mesinovic
Xin Ci Wong
David Zucman
ResearchOpen Access16 Jul 2024
Scientific Reports

Volume: 14, P: 1-43
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Marie Morimoto
Vikas Bhambhani
May Christine V. Malicdan
ResearchOpen Access10 Feb 2023
npj Genomic Medicine

Volume: 8, P: 1-16
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
Amendments and CorrectionsOpen Access19 Oct 2021
Genetics in Medicine

Volume: 23, P: 2467
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Amendments and Corrections14 Sept 2021
Genetics in Medicine

Volume: 23, P: 2016
ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

Ali Abbas
Sheryl Ann Abdukahil
Luis Felipe Reyes
ResearchOpen Access30 Jul 2022
Scientific Data

Volume: 9, P: 1-22

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Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

Regulation of airway fumarate by host and pathogen promotes Staphylococcus aureus pneumonia

Fever in Young Lambs: Carotid Denervation Alters the Febrile Response to a Small Dose of Bacterial Pyrogen

Comparative transcriptome analysis reveals candidate genes for cold stress response and early flowering in pineapple

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

A universal method for high-quality RNA extraction from plant tissues rich in starch, proteins and fiber

Genome-wide association study and gene network analyses reveal potential candidate genes for high night temperature tolerance in rice

Improving Gene Regulatory Network Inference by Incorporating Rates of Transcriptional Changes

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Engineering osteoblastic metastases to delineate the adaptive response of androgen-deprived prostate cancer in the bone metastatic microenvironment

At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

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